ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.406del (p.Glu136fs)

dbSNP: rs1881793162
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225207 SCV001397448 pathogenic Rett syndrome, congenital variant 2019-05-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the FOXG1 protein. Other variant(s) that disrupt this region (p.Ser468Leufs*20) have been determined to be pathogenic (PMID: 30525188). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with FOXG1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change results in a premature translational stop signal in the FOXG1 gene (p.Glu136Serfs*56). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 354 amino acids of the FOXG1 protein.

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